Figure S2.
Panel A: A scatter plot showing the relationship between CADD score and LOG10 of minor allele frequency (MAF) for WDR75 variants. The horizontal axis represents LOG10 (MAF) with values ranging from -6 to 0. The vertical axis represents CADD score with values ranging from 0 to 60. The plot includes several data points, each representing a different type of variant, such as frameshift, IVS PLOF, missense, essential splicing, stop gain, and user variant. Notable variants, T46I and E593, are highlighted. Panel B: A diagram of the predicted AlphaFold protein structure of WDR75, with the T46I variant highlighted in light green. Panel C: Two close-up views of the small subunit (SSU) processome, showing the location of the T46I variant. The views are labeled with THR and ILE, indicating the amino acids threonine and isoleucine, respectively.
Evaluation of WDR75 variants based on damage prediction score, allele frequency, and localization. (A) PopViz plot of WDR75 variants presenting damage prediction score CADD versus MAF using PopViz (http://shiva.rockefeller.edu/PopViz/). (B) Location of the WDR75 p.T46I variant highlighted in light green within the predicted AlphaFold protein structure (AF-Q8IWA0-F1-model_v4) (10, 11, 12). (C) Location of the WDR75 p.T46I variant within the SSU processome (Q8IWA0). The model was visualized using the PyMOL Molecular Graphics System (version 3.1.0; Schrödinger, LLC). MAF, minor allele frequency.